| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Cervical Cancer |
|
Cervix cancer |
OMIM:603956 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Neonatal death, Perimembranous ventricular septal defect, Camptodactyly, Thromb... |
OMIM:608104 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Cirrh... |
OMIM:231100 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys |
ORPHA:3411 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus |
OMIM:619151 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
| 46,Xy Sex Reversal 11 |
|
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd... |
OMIM:127550 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Polysplenia, Dilated fourth ventricle, Right aortic arch, Situs inv... |
OMIM:620642 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Abnormal vagina morphology, Thrombocytopenia |
ORPHA:2123 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Hepatic periporta... |
ORPHA:139507 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... |
OMIM:615615 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Carcinoid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... |
ORPHA:100093 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Fulmina... |
OMIM:231530 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... |
ORPHA:1457 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Neutropenia, Abnormal morphology of female interna... |
OMIM:193670 |
| Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Fryns Microphthalmia Syndrome |
|
Unicornuate uterus |
OMIM:600776 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia |
OMIM:616744 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Ret... |
OMIM:618278 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Transaldolase Deficiency |
|
Anemia, Abnormal clitoris morphology, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:101028 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... |
OMIM:400045 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... |
ORPHA:363444 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Stt3B-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Death in childh... |
OMIM:619924 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Acute hepatic fa... |
ORPHA:71212 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma |
ORPHA:314478 |
| Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly |
OMIM:618804 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Snijders Blok-Campeau Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis |
OMIM:618205 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Secundum atrial septal defect, Cerebellar atrophy, Skeletal muscle atrophy, Splenomegaly, Death i... |
OMIM:608779 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... |
OMIM:201475 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
| Leigh Syndrome, Nuclear |
|
Hepatocellular necrosis |
OMIM:256000 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Hypotension, Elevated circulating hepatic transaminase concentration... |
ORPHA:90062 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... |
OMIM:617877 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular... |
OMIM:256810 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... |
OMIM:158170 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Muscular dystrophy, Cardiomyopathy, Cerebellar dysplasia, Cerebella... |
OMIM:613155 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:26791 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
| Laubry-Pezzi Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Aortic valve prolapse, Bicuspid aortic valve, Le... |
ORPHA:99094 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus |
OMIM:615300 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... |
OMIM:300835 |
| Lumbar Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Beta-Thalassemia |
|
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Thrombocytop... |
ORPHA:848 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... |
OMIM:600001 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
| Halperin-Birk Syndrome |
|
Semilobar holoprosencephaly, Congenital diaphragmatic hernia, Death in childhood, Perimembranous ... |
OMIM:618651 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:603552 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:616435 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616910 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Muscular dystrophy, Hypoplasia of the pons, Cerebellar dysplasia, Cerebellar cyst, Death in child... |
OMIM:613153 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia |
OMIM:610539 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, Hypochromic ... |
OMIM:301040 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Hoxha-Aliu Syndrome |
|
Perimembranous ventricular septal defect, Atrial septal defect, Contracture of the proximal inter... |
OMIM:620662 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... |
OMIM:617443 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... |
ORPHA:158057 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... |
OMIM:618459 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis |
OMIM:231680 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Cryptorchidism, Thrombocytopenia |
OMIM:620365 |
| Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... |
OMIM:194080 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus... |
ORPHA:508498 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:613101 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Hydrocele testis, Thrombocytopenia |
ORPHA:96181 |
| Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Polycythemia, Patent foramen... |
OMIM:300855 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Omodysplasia 2 |
|
Uterus didelphys, Cryptorchidism, Labial hypoplasia, Micropenis, Hypospadias, Clitoral hypoplasia |
OMIM:164745 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Meacham Syndrome |
|
Death in childhood, Neonatal death, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... |
OMIM:608978 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Immunodeficiency 102 |
|
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... |
OMIM:301082 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Absent circulating B cells, Decreased proportion of class-switched m... |
OMIM:619705 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
ORPHA:432 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:610333 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventr... |
OMIM:180849 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Polycythemia |
OMIM:606812 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Babesiosis |
|
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
ORPHA:108 |
| Preeclampsia |
|
Thrombocytopenia, Polycystic ovaries |
ORPHA:275555 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia |
ORPHA:507 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... |
OMIM:619824 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:616050 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Cryptorchidism, Neutropenia |
OMIM:614857 |
| Transaldolase Deficiency |
|
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:606003 |
| Isolated Agammaglobulinemia |
|
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia |
ORPHA:229717 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis |
OMIM:611490 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, B lymphocytopenia |
OMIM:619851 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... |
OMIM:619802 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia |
ORPHA:27 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
ORPHA:79312 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Cerebellar vermis hypoplasia, T lymphocytopenia, Abnormal natural killer cell morphology, B lymph... |
OMIM:615966 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... |
OMIM:607594 |
| Atelis Syndrome 1 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:620184 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Mirage Syndrome |
|
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Cryptorchidism, Hypoplastic spl... |
OMIM:617053 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Immunodeficiency 114, Folate-Responsive |
|
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia |
OMIM:620603 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... |
ORPHA:90796 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Hand-Foot-Genital Syndrome |
|
Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum |
OMIM:140000 |
| Duplication Of Urethra |
|
Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde... |
ORPHA:237 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... |
OMIM:601399 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Micropenis, Acute lymphoblastic leukemia |
OMIM:606593 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Coarctation of aor... |
OMIM:612474 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:152700 |
| Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Perimembranous ventricular septal defect, Contracture of the distal int... |
ORPHA:83617 |
| Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Hydrocele testis, Shawl scrotum |
OMIM:145420 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Oeis Complex |
|
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:304790 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... |
ORPHA:90793 |
| Prune Belly Syndrome |
|
Decreased testicular size, Urogenital sinus anomaly, Cryptorchidism, Abnormality of the uterus |
ORPHA:2970 |
| Wolfram Syndrome 1 |
|
Testicular atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia |
OMIM:222300 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:600901 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... |
ORPHA:100026 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
| Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Cerebellar atrophy, Pancytopenia,... |
OMIM:620133 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227650 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis |
ORPHA:243 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Congenital Rubella Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:290 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Rhabdoid Tumor |
|
Anemia, Thrombocytopenia |
ORPHA:69077 |
| Holt-Oram Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Hypoplasia of deltoid muscle, Atrial septal def... |
OMIM:142900 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio |
OMIM:618048 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia |
ORPHA:85212 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... |
OMIM:301078 |
| Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Cryptorchidism, Abnormality of the uterus |
ORPHA:2470 |
| Tularemia |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:3392 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:168558 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocytic anemia, Neutropenia, Thromb... |
OMIM:613990 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypogonadism, Thrombocytopenia, Micropenis, Hypergonadotropic hypogonadism |
OMIM:300514 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis |
OMIM:619644 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... |
OMIM:615607 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
| Propionic Acidemia |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:606054 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... |
ORPHA:86839 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Neutropenia, Thr... |
OMIM:242900 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Cryptorchidism, Thrombocytopenia, Micropenis, Hypospadias |
OMIM:301056 |
| Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Pulmonary artery atresia, Cerebellar atrophy, Atrioventr... |
OMIM:270100 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:263501 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
| Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,... |
OMIM:227645 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... |
OMIM:241080 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Cr... |
OMIM:617052 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
| Griscelli Syndrome |
|
Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia |
ORPHA:381 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:613845 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Cryptorchidism, Thrombocytopenia, Anemia, Hypospadias |
OMIM:611209 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Bicornuate uterus |
OMIM:300707 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Cereb... |
OMIM:613150 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Micropenis, Abnormal... |
ORPHA:1655 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Erythroid hypoplasia, ... |
OMIM:612541 |
| Pseudotrisomy 13 Syndrome |
|
Micropenis, Bicornuate uterus, Cryptorchidism |
OMIM:264480 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
| Congenital Enterovirus Infection |
|
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:292 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... |
OMIM:614700 |
| Fanconi Anemia, Complementation Group F |
|
Microphallus, Leukopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:603467 |
| X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... |
OMIM:102700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee... |
OMIM:618820 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:903 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane... |
OMIM:616084 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitora... |
OMIM:618419 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias |
OMIM:309801 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
| Prolidase Deficiency |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:170100 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Currarino Syndrome |
|
Septate vagina, Rectovaginal fistula, Bicornuate uterus |
OMIM:176450 |
| Noonan Syndrome 4 |
|
Cryptorchidism, Thrombocytopenia |
OMIM:610733 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:64743 |
| Woodhouse-Sakati Syndrome |
|
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... |
ORPHA:3464 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia |
ORPHA:231111 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Patent foramen ovale, Atrial septal defe... |
OMIM:620005 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:294 |
| Pagod Syndrome |
|
Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnormality of the s... |
ORPHA:991 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... |
OMIM:278000 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... |
OMIM:214500 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Contracture of the proximal interphalangeal joint of the 3rd finger, ... |
OMIM:618223 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:614576 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47612 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:613989 |
| Fryns Syndrome |
|
Bicornuate uterus, Hypospadias, Cryptorchidism |
ORPHA:2059 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Atrial septal defect, Dextroca... |
OMIM:619702 |
| Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Abnormal vagina morphology, Neutropenia |
ORPHA:537 |
| Fanconi Anemia |
|
Abnormality of the uterus, Hypogonadism, Azoospermia, Leukopenia, Cryptorchidism, Thrombocytopeni... |
ORPHA:84 |
| Alg12-Cdg |
|
Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, Cerebellar h... |
ORPHA:79324 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... |
ORPHA:79124 |
| Snakebite Envenomation |
|
Thrombocytopenia |
ORPHA:449285 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
| Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Cryptorchidism, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Dengue Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:99828 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia |
ORPHA:261250 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Papillary cystadenoma of the epididymis, Hypospadias, Bicornuate uterus |
ORPHA:93111 |
| Alg8-Cdg |
|
Anemia, Thrombocytopenia |
ORPHA:79325 |
| Cyclic Neutropenia |
|
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:274150 |
| Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus |
ORPHA:3440 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:259700 |
| Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias |
OMIM:137920 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... |
OMIM:606367 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A... |
OMIM:603553 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... |
ORPHA:1830 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys |
OMIM:200980 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
| Fanconi Anemia, Complementation Group D2 |
|
Leukemia, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia,... |
OMIM:227646 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocytop... |
ORPHA:508542 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:540 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Hydrocele testis, Thrombocytopenia |
ORPHA:79330 |
| Wilson Disease |
|
Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:905 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:457077 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Rhombencephalosynapsis |
|
Abnormality of the uterus |
ORPHA:59315 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Dyskeratosis Congenita |
|
Abnormal morphology of female internal genitalia, Splenomegaly, Displacement of the urethral meat... |
ORPHA:1775 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251110 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:277380 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias |
ORPHA:2745 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic ... |
OMIM:610377 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:267700 |
| Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop... |
ORPHA:99776 |
| Hermansky-Pudlak Syndrome 6 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:614075 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... |
ORPHA:322 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia |
ORPHA:169090 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Lathosterolosis |
|
Hypoplasia of penis, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis |
ORPHA:46059 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:251290 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617303 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:251100 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp... |
ORPHA:77259 |
| Avian Influenza |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:454836 |
| Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali... |
OMIM:263650 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Splenopancreatic fusion, Hypoplastic labia majora, Micropenis, Bicorn... |
OMIM:269150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
| Pediatric-Onset Graves Disease |
|
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:525731 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... |
ORPHA:90794 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micropenis, Decreased hemoglobin concentration, Cryptorchidism, Thrombocytopenia |
OMIM:619005 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Anemia |
OMIM:614083 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Enlarged ovaries, Thrombocytopenia |
ORPHA:2298 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Ebola Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319218 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... |
ORPHA:811 |
| Dubowitz Syndrome |
|
Abnormal female external genitalia morphology, Cryptorchidism, Thrombocytopenia, Anemia, Abnormal... |
ORPHA:235 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc... |
OMIM:259720 |
| Jacobsen Syndrome |
|
Cryptorchidism, Labial hypoplasia, Thrombocytopenia, Hypospadias, Clitoral hypoplasia |
OMIM:147791 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Septate vagina, Uterus didelphys |
OMIM:617925 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Microsporidiosis |
|
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Abnormal endometr... |
ORPHA:2552 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia |
OMIM:308230 |
| Necrotizing Enterocolitis |
|
Thrombocytopenia, Leukocytosis, Neutropenia |
ORPHA:391673 |
| Immunodeficiency 22 |
|
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia |
OMIM:615758 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... |
OMIM:557000 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia |
OMIM:617591 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency |
OMIM:130050 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla... |
ORPHA:2232 |
| Good Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:225750 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
| Recon Progeroid Syndrome |
|
Anemia, Thrombocytopenia |
OMIM:620370 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... |
ORPHA:906 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia |
OMIM:208085 |
| Fryns Syndrome |
|
Bifid scrotum, Polysplenia, Cryptorchidism, Shawl scrotum, Bicornuate uterus, Hypospadias |
OMIM:229850 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:90051 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:620654 |
| Hydrolethalus Syndrome 1 |
|
Bifid uterus, Hypospadias, Abnormal vagina morphology, Accessory spleen |
OMIM:236680 |
| Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia |
ORPHA:974 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Alg9-Cdg |
|
Bicornuate uterus, Hypoplasia of the ovary |
ORPHA:79328 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia |
OMIM:608013 |
| Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Small scrotum, Bifid scrotum, Septate vagina, Cryptorchidism, Splenomegaly, A... |
OMIM:270400 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus |
ORPHA:3138 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia |
ORPHA:99901 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... |
OMIM:618280 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Lymphopenia, Hepatosplenomegaly, Renal artery stenosis, A... |
ORPHA:391487 |
| Cornelia De Lange Syndrome 1 |
|
Hypoplastic male external genitalia, Cryptorchidism, Hypoplastic labia majora, Thrombocytopenia, ... |
OMIM:122470 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... |
OMIM:201750 |
| Overlap Myositis |
|
Leukopenia, Thrombocytopenia |
ORPHA:206572 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Cryptorchidism, Anemia, Thrombocytopenia, Micropenis, Hypospadias |
ORPHA:163979 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia |
ORPHA:293978 |
| Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism, Phimosis, Acute myeloid leuk... |
OMIM:305000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Aplasia of the uterus, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:274000 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Thrombocytopenia |
OMIM:619743 |
| Farber Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:333 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia |
ORPHA:464329 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:261323 |
| Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou... |
ORPHA:2052 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:319213 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,... |
OMIM:620376 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
| Deeah Syndrome |
|
Micropenis, Decreased hemoglobin concentration, Cryptorchidism, Thrombocytopenia |
OMIM:619004 |
| Bcard Syndrome |
|
Thrombocytopenia |
OMIM:612394 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bicornuate uterus, Hypospadias |
OMIM:219000 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia |
ORPHA:90038 |
| Neuroblastoma |
|
Anemia, Thrombocytopenia |
ORPHA:635 |
| Gaucher Disease, Type Ii |
|
Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopenia |
ORPHA:36234 |
| Down Syndrome |
|
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia |
ORPHA:870 |
| Castleman Disease |
|
Anemia, Decreased mean corpuscular volume, Thrombocytopenia |
ORPHA:160 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Congenital Syphilis |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis |
ORPHA:499009 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Ulnar-Mammary Syndrome |
|
Imperforate hymen, Small scrotum, Shawl scrotum, Micropenis, Bicornuate uterus |
OMIM:181450 |
| Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ... |
ORPHA:221139 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Shigellosis |
|
Thrombocytopenia, Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia |
ORPHA:810 |
| Agammaglobulinemia, X-Linked |
|
Cor pulmonale, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia |
OMIM:300755 |
| Brucellosis |
|
Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Orchitis, Thrombocytopenia, Thrombocytosis... |
ORPHA:1304 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Thrombocytopenia |
OMIM:300972 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... |
ORPHA:3260 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia |
ORPHA:505248 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia |
OMIM:617718 |
| Q Fever |
|
Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia |
ORPHA:781 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia |
OMIM:620185 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Thrombocytopenia |
OMIM:612199 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
| 22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Abnormality of the uterus, Cryptorchidism, Splenomegaly, Hypoplasia ... |
ORPHA:567 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:222700 |
| Stevens-Johnson Syndrome |
|
Anemia, Abnormality of neutrophils, Thrombocytopenia |
ORPHA:36426 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Bicornuate uterus, Hypospadias |
OMIM:265380 |
| Gaucher Disease Type 3 |
|
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia |
ORPHA:77261 |
| Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia |
OMIM:251260 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Hemolytic anemia |
OMIM:615846 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Porphyria, Congenital Erythropoietic |
|
Reduced erythrocyte uroporphyrinogen III cosynthase activity, Hemolytic anemia, Splenomegaly, Thr... |
OMIM:263700 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Azoospermia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocy... |
ORPHA:2072 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... |
OMIM:619573 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
| Rift Valley Fever |
|
Anemia, Thrombocytopenia |
ORPHA:319251 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Thrombocytopenia |
OMIM:620423 |
| Jacobsen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:2308 |
| Cowden Syndrome |
|
Abnormal penis morphology, Enlarged polycystic ovaries, Endometrial carcinoma, Abnormality of the... |
ORPHA:201 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Abnormality of the uterus, Ambiguous genitalia, female, External genital hypopl... |
OMIM:249000 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... |
ORPHA:99826 |
| Pearson Syndrome |
|
Pancytopenia, Reticulocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hypoplastic s... |
ORPHA:699 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Uterus didelphys, Cryptorchidism, Ambiguous genitalia, Hypoplasia of penis, Urethrovaginal fistula |
ORPHA:93271 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... |
ORPHA:447 |
| Tangier Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:31150 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia |
OMIM:301072 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Pancytopenia, Leukocytosis, Splenomegaly, Orchitis, Thrombocytopenia, Neutrophilia, E... |
ORPHA:99827 |
| Caroli Syndrome |
|
Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:480520 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia |
ORPHA:647 |
| Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Azoospermia, Cryptorchidism, Thrombocytopenia |
ORPHA:534 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatosplenomegaly, Cryptorchidism, Micropenis, Unicornuate uterus, Hemolytic anemia |
OMIM:619503 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia |
ORPHA:2785 |
| Lacrimoauriculodentodigital Syndrome |
|
Bicornuate uterus, Cryptorchidism |
ORPHA:2363 |
| Peters Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypoplasia |
ORPHA:709 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia |
ORPHA:464321 |
| Peters-Plus Syndrome |
|
Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Hypoplasia of the uterus, Hyp... |
OMIM:261540 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Splenomegaly, Epididymitis, Thrombocytopenia |
OMIM:256040 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias |
ORPHA:286 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Bicorn... |
OMIM:268300 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:340 |
| Wilson Disease |
|
Anemia, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:277900 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:50918 |
| Gaucher Disease |
|
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, An... |
ORPHA:355 |
| Digeorge Syndrome |
|
Splenomegaly, Ovarian cyst, Hypoplasia of the thymus, Thrombocytopenia, Anemia, Hydrocele testis |
OMIM:188400 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Thrombocytopenia, Leukocytosis |
ORPHA:544482 |
| Aicardi-Goutières Syndrome |
|
Micropenis, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia |
ORPHA:51 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia |
ORPHA:470 |
| Sarcoidosis |
|
Leukopenia, Abnormal reproductive system morphology, Increased T cell count, Eosinophilia, Thromb... |
ORPHA:797 |
| Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism |
OMIM:135900 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias |
OMIM:276820 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Anemia, Hydrocele testis, Hypospadias |
OMIM:619991 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:619525 |
| Townes-Brocks Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Rectoperine... |
ORPHA:857 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism |
OMIM:301068 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, B lymphoc... |
OMIM:619381 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Hypogonadism, Cryptorchidism, Amegakaryocytic thrombocytopenia,... |
OMIM:163950 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Anemia, Cryptorchidism, Uterine prolapse |
ORPHA:438213 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia |
ORPHA:666 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism |
ORPHA:731 |
| Cornelia De Lange Syndrome |
|
Abnormality of the uterus, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of penis, Hypospa... |
ORPHA:199 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy... |
ORPHA:77293 |
| Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse |
ORPHA:287 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
| Yellow Fever |
|
Leukocytosis, Thrombocytopenia, Neutrophilia |
ORPHA:99829 |
| Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse |
ORPHA:284984 |
| Pallister-Killian Syndrome |
|
Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Aplasia of the up... |
OMIM:601803 |
| Loeys-Dietz Syndrome 3 |
|
Cystocele, Uterine prolapse |
OMIM:613795 |
| Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
